ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2919C>T (p.Tyr973=)

gnomAD frequency: 0.00066  dbSNP: rs181161119
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000322377 SCV000345813 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
Invitae RCV001079416 SCV000555840 likely benign Bloom syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566804 SCV000672930 likely benign Hereditary cancer-predisposing syndrome 2017-06-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000322377 SCV002006795 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820844 SCV002069625 likely benign not specified 2021-07-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000566804 SCV002531827 likely benign Hereditary cancer-predisposing syndrome 2021-01-12 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000322377 SCV002774104 likely benign not provided 2022-08-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000322377 SCV004130910 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing BLM: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003910047 SCV004718155 likely benign BLM-related condition 2019-06-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001079416 SCV001454868 likely benign Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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